Incidental Mutation 'IGL02810:Bbs2'
ID 360536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs2
Ensembl Gene ENSMUSG00000031755
Gene Name Bardet-Biedl syndrome 2
Synonyms 2410125H22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # IGL02810
Quality Score
Status
Chromosome 8
Chromosomal Location 94794582-94825556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94813539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 213 (Y213H)
Ref Sequence ENSEMBL: ENSMUSP00000034206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034206]
AlphaFold Q9CWF6
Predicted Effect probably benign
Transcript: ENSMUST00000034206
AA Change: Y213H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: Y213H

DomainStartEndE-ValueType
Pfam:BBS2_N 20 161 1.4e-62 PFAM
Pfam:BBS2_Mid 162 272 6.9e-50 PFAM
Pfam:BBS2_C 276 715 2.6e-193 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,249,401 (GRCm39) K1491E probably damaging Het
Abi3bp T C 16: 56,498,138 (GRCm39) S696P probably damaging Het
Ago1 A G 4: 126,336,886 (GRCm39) V273A probably benign Het
Atosb C A 4: 43,034,429 (GRCm39) V389F probably damaging Het
Car10 T A 11: 93,469,522 (GRCm39) Y142N probably damaging Het
Eml6 T C 11: 29,799,016 (GRCm39) K415E possibly damaging Het
Exoc3l A T 8: 106,021,980 (GRCm39) I41N probably damaging Het
Fat3 T C 9: 16,288,146 (GRCm39) D459G probably damaging Het
Gabbr1 T C 17: 37,373,654 (GRCm39) F401L probably damaging Het
Galnt10 G A 11: 57,616,412 (GRCm39) R109Q probably damaging Het
Gpr108 C T 17: 57,549,742 (GRCm39) D265N probably benign Het
Helb T C 10: 119,927,608 (GRCm39) N834S possibly damaging Het
Igkv8-30 A G 6: 70,094,342 (GRCm39) V23A probably benign Het
Iqck A T 7: 118,570,662 (GRCm39) K271N possibly damaging Het
Klhl17 T C 4: 156,318,514 (GRCm39) E36G possibly damaging Het
Klrb1b A G 6: 128,795,430 (GRCm39) probably null Het
Mybl1 G A 1: 9,743,340 (GRCm39) P571S probably damaging Het
Mybl1 T C 1: 9,748,613 (GRCm39) T328A probably benign Het
Nav3 A T 10: 109,652,135 (GRCm39) D873E probably damaging Het
Nms T C 1: 38,987,725 (GRCm39) Y147H possibly damaging Het
Nrde2 A T 12: 100,110,017 (GRCm39) M338K possibly damaging Het
Oasl2 T A 5: 115,035,852 (GRCm39) F43I probably damaging Het
Oxr1 G A 15: 41,676,979 (GRCm39) V91I probably benign Het
Pcnx2 C T 8: 126,613,942 (GRCm39) C503Y probably benign Het
Polr2m A T 9: 71,390,848 (GRCm39) I14K probably benign Het
Ppara T C 15: 85,661,878 (GRCm39) S40P probably damaging Het
Shisa6 T A 11: 66,115,774 (GRCm39) T288S possibly damaging Het
Slc26a5 T C 5: 22,018,381 (GRCm39) probably benign Het
Spag1 A G 15: 36,234,693 (GRCm39) N818D probably damaging Het
Srcap T C 7: 127,120,835 (GRCm39) probably null Het
Tctn1 C T 5: 122,380,664 (GRCm39) probably null Het
Triobp A G 15: 78,886,403 (GRCm39) N507S possibly damaging Het
Tut7 A G 13: 59,929,830 (GRCm39) probably null Het
Ugt2b34 C A 5: 87,054,383 (GRCm39) V133L probably benign Het
Yju2b A G 8: 84,990,997 (GRCm39) probably benign Het
Other mutations in Bbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Bbs2 APN 8 94,815,795 (GRCm39) critical splice acceptor site probably null
IGL02250:Bbs2 APN 8 94,819,054 (GRCm39) missense probably benign 0.22
IGL02427:Bbs2 APN 8 94,807,746 (GRCm39) missense possibly damaging 0.92
IGL02850:Bbs2 APN 8 94,803,710 (GRCm39) missense probably benign
IGL03050:Bbs2 APN 8 94,801,041 (GRCm39) splice site probably benign
IGL03292:Bbs2 APN 8 94,801,749 (GRCm39) critical splice donor site probably null
Gosling UTSW 8 94,809,118 (GRCm39) missense possibly damaging 0.95
rolie UTSW 8 94,808,992 (GRCm39) missense probably damaging 0.96
BB007:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
BB017:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
R0755:Bbs2 UTSW 8 94,808,708 (GRCm39) missense probably benign 0.22
R0835:Bbs2 UTSW 8 94,801,887 (GRCm39) missense probably damaging 1.00
R1404:Bbs2 UTSW 8 94,808,627 (GRCm39) missense probably null 0.01
R1404:Bbs2 UTSW 8 94,808,627 (GRCm39) missense probably null 0.01
R1513:Bbs2 UTSW 8 94,816,472 (GRCm39) missense possibly damaging 0.94
R1972:Bbs2 UTSW 8 94,807,805 (GRCm39) splice site probably benign
R4648:Bbs2 UTSW 8 94,807,507 (GRCm39) missense probably damaging 1.00
R4876:Bbs2 UTSW 8 94,796,788 (GRCm39) unclassified probably benign
R4911:Bbs2 UTSW 8 94,815,743 (GRCm39) missense probably damaging 1.00
R4966:Bbs2 UTSW 8 94,807,435 (GRCm39) missense probably damaging 1.00
R4982:Bbs2 UTSW 8 94,808,982 (GRCm39) critical splice donor site probably null
R5202:Bbs2 UTSW 8 94,819,042 (GRCm39) nonsense probably null
R5347:Bbs2 UTSW 8 94,819,178 (GRCm39) missense probably damaging 0.98
R5364:Bbs2 UTSW 8 94,801,023 (GRCm39) missense probably benign 0.00
R5538:Bbs2 UTSW 8 94,816,391 (GRCm39) missense probably damaging 1.00
R5685:Bbs2 UTSW 8 94,814,061 (GRCm39) missense probably damaging 1.00
R5918:Bbs2 UTSW 8 94,824,931 (GRCm39) missense probably damaging 0.98
R5963:Bbs2 UTSW 8 94,807,659 (GRCm39) missense probably benign 0.02
R5964:Bbs2 UTSW 8 94,794,995 (GRCm39) missense probably benign 0.18
R5991:Bbs2 UTSW 8 94,824,914 (GRCm39) missense probably benign 0.24
R6050:Bbs2 UTSW 8 94,819,160 (GRCm39) missense probably damaging 1.00
R6172:Bbs2 UTSW 8 94,814,039 (GRCm39) missense probably benign 0.02
R6241:Bbs2 UTSW 8 94,824,863 (GRCm39) critical splice donor site probably null
R6578:Bbs2 UTSW 8 94,803,669 (GRCm39) missense probably null 0.00
R7330:Bbs2 UTSW 8 94,814,033 (GRCm39) missense possibly damaging 0.78
R7404:Bbs2 UTSW 8 94,808,992 (GRCm39) missense probably damaging 0.96
R7775:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7778:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7824:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7895:Bbs2 UTSW 8 94,807,764 (GRCm39) missense probably damaging 1.00
R7930:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
R8004:Bbs2 UTSW 8 94,809,118 (GRCm39) missense possibly damaging 0.95
R8084:Bbs2 UTSW 8 94,814,056 (GRCm39) missense probably damaging 1.00
R8305:Bbs2 UTSW 8 94,800,953 (GRCm39) missense probably damaging 1.00
R8545:Bbs2 UTSW 8 94,813,352 (GRCm39) missense probably benign
R9262:Bbs2 UTSW 8 94,807,543 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18